Huntington's disease-like 2: a phenocopy not to miss

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington's disease were negative but were positive for Huntington's disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

Keywords: Alzheimer’s disease; EMG; cerebellar ataxia; dementia; leprosy; motor neuron disease; movement disorders; neurogenetics; neuropathy; parkinson’s disease.